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Circulation Research|January 23, 2024
Apolipoprotein E-ε2 and Resistance to Atherosclerosis in Midlife: The PESA Observational StudyRaquel Toribio-Fernández, Catarina Tristão-Pereira, Juan Carlos Silla-Castro, et al.
Scientific Reports|March 29, 2018
Combining targeted panel-based resequencing and copy-number variation analysis for the diagnosis of inherited syndromic retinopathies and associated ciliopathiesIker Sanchez-Navarro, Luciana R J da Silva, Fiona Blanco-Kelly, et al.
International Journal of Molecular Sciences|May 7, 2025
Long-Read Whole-Genome Sequencing as a Tool for Variant Detection in Inherited Retinal DystrophiesCristina Rodilla, Gonzalo Núñez-Moreno, Yolanda Benitez, et al.
Plos One|April 13, 2016
A Comprehensive Analysis of Choroideremia: From Genetic Characterization to Clinical PracticeRocio Sanchez-Alcudia, Maria Garcia-Hoyos, Miguel Angel Lopez-Martinez, et al.
Scientific Reports|July 2, 2026
Germline pathogenic variants associated with prostate cancer susceptibility in a Spanish cohort: emergence of new key playersCamila Reeb, Graciela Uría-Regojo, Jesús González-González, et al.
Bioinformatics (Oxford, England)|March 24, 2017
Phenopolis: an open platform for harmonization and analysis of genetic and phenotypic dataNikolas Pontikos, Jing Yu, Ismail Moghul, et al.
Scientific Reports|January 16, 2021
Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implicationsIrene Perea-Romero, Gema Gordo, Ionut F Iancu, et al.
American Journal of Ophthalmology|June 16, 2023
Comprehensive Genotyping and Phenotyping Analysis of GUCY2D-Associated Rod- and Cone-Dominated DystrophiesCristina Rodilla, Inmaculada Martín-Merida, Fiona Blanco-Kelly, et al.
International Journal of Molecular Sciences|March 13, 2024
PRPH2-Related Retinal Dystrophies: Mutational Spectrum in 103 Families from a Spanish CohortLidia Fernández-Caballero, Inmaculada Martín-Merida, Fiona Blanco-Kelly, et al.
Human Genetics|February 22, 2018
New GJA8 variants and phenotypes highlight its critical role in a broad spectrum of eye anomaliesFabiola Ceroni, Domingo Aguilera-Garcia, Nicolas Chassaing, et al.
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